Introduction
The body's metabolism of cholesterol is impacted by familial hypercholesterolemia. As a result, those with familial hypercholesterolemia are more likely to develop heart disease and have an early heart attack. Familial hypercholesterolemia is caused by inherited genetic mutations. Even if the disorder is present from birth, symptoms may not show up until later in life. Those who inherit the illness from both parents typically have symptoms while they are young. Death frequently happens before the age of 20 if this rare and more severe type is not treated.
Blood levels of low-density lipoprotein (LDL), also known as bad cholesterol, are higher in those with familial hypercholesterolemia. A heart attack or developing coronary artery disease are both made more likely by having too much low-density lipoprotein cholesterol in the blood. Exercise and healthy eating habits are crucial for familial hypercholesterolemia sufferers, but they are frequently insufficient to get their cholesterol down to a safe level. To reduce cholesterol levels, medications are required, including statins.
What Causes Familial Hypercholesterolemia?
Genetic issues can cause familial hypercholesterolemia. A flaw in chromosome 19 is the reason for it. Due to the flaw, the body is unable to eliminate low-density lipids, or bad cholesterol, from the blood. Consequently, the blood's low-density lipids concentration rises. As a result, the risk of developing atherosclerosis and artery narrowing at a young age increases. Usually, an autosomal dominant pattern of inheritance is used to spread the disorder from family to family. This implies that the disease can be inherited if the faulty gene is passed down from just one parent.
What Are the Symptoms Associated With Familial Hypercholesterolemia?
Low-density lipoprotein (LDL) cholesterol is seen in extremely high concentrations in the blood of both adults and children who have familial hypercholesterolemia. Due to its propensity to accumulate in artery walls and harden and narrow them, low-density lipoprotein cholesterol is referred to as bad cholesterol. Sometimes, this extra cholesterol is accumulated in specific areas of the skin, tendons, and the area around the iris of the eyes.
1. Skin
The palms, elbows, and knees are the areas where cholesterol deposits are most frequent. The skin around the eyes is another area where they can appear.
2. Tendons
The Achilles tendon as well as a few tendons in the hands, may thicken due to cholesterol accumulation.
3. Eyes
A white or gray ring that surrounds the eye's iris might be caused by high cholesterol levels. However, younger individuals with familial hypercholesterolemia are also susceptible to this. It most frequently occurs in elderly individuals.
4. Cardiovascular Disease
Atherosclerosis, the primary cause of cardiovascular disease, is brought on by an accelerated buildup of cholesterol in the artery walls. The most frequent issue in familial hypercholesterolemia is the onset of coronary artery disease, or atherosclerosis of the coronary arteries that supply the heart, considerably earlier than would be typical for the general population. Angina pectoris, or tightness in the chest after physical effort, or heart attacks may result from this. Less frequently, arteries in the brain are impacted; this may result in transient ischemic events (short episodes of paralysis on one side of the body or speech impediment) or stroke on occasion.
What Are the Risk Factors Associated With Familial Hypercholesterolemia?
If one or both of the parents carry the gene mutation that results in familial hypercholesterolemia, the risk of developing it will be increased. Most individuals with the disease inherit the impacted gene. Rarely, though, may a child get the problematic gene from both parents. A more severe form of illness may result from this.
There may be a higher prevalence of familial hypercholesterolemia in several populations, including
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Jewish Ashkenazis.
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Several Lebanese groups.
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The French Canadians.
How Is Familial Hypercholesterolemia Diagnosed?
1. Patients suffering from familial hypercholesterolemia might have symptoms of familial hypercholesterolemia or they might not have symptoms. So on the basis of symptoms alone, it might be difficult to diagnose the disease.
2. Cholesterol buildup in the tendons of the hands, elbows, or Achilles is one sign. The area surrounding the eyes is one more area where people with familial hypercholesterolemia may acquire cholesterol deposits.
3. The diagnosis of familial hypercholesterolemia is frequently made using a combination of laboratory and physical exam findings, as well as information from the patient's and the patient's family's medical history. Molecular, genetic, or genetic testing can all be used to diagnose familial hypercholesterolemia. Genetic testing is helpful in finding familial hypercholesterolemia, it is advantageous since it can inform family members of their risk.
4. All first-degree relatives, such as parents, siblings, and children, should be tested for familial hypercholesterolemia if one member of a family has it. In the same way, it is good for other family members to get checked if someone in the family has had a recent heart attack.
5. Screenings for familial hypercholesterolemia should start at age two for kids who are at higher risk. Between the ages of 9 and 11 as well as between the years of 17 and 21 for all youngsters, their cholesterol levels should be examined. If a child's cholesterol level is high enough or if their family history warrants it, medication may be administered as early as age 8 or 10.
What Is the Treatment for Familial Hypercholesterolemia?
1. Exercise and nutrition alone cannot treat familial hypercholesterolemia. Although these lifestyle modifications can be helpful, medication is necessary when low-density lipid cholesterol levels need to be drastically decreased (at least 50 percent).
2. A Statin pill is typically used as treatment, while other cholesterol-lowering drugs like ezetimibe may also be necessary. A procedure termed low-density lipid apheresis may be required for people with exceptionally high low-density lipid cholesterol, such as those with homozygous familial hypercholesterolemia. Every few weeks, this dialysis-like process is carried out to eliminate cholesterol from the blood.
3. Bile acid sequestrants (such as Cholestyramine or Colesevelam), a different class of lipid-lowering drugs, may also be employed. By using these medications, the intestines absorb less cholesterol. In turn, this reduces the quantity of cholesterol that enters the bloodstream.
4. If familial hypercholesterolemia is detected early and properly treated, patients have a very good prognosis.
5. Additionally, injectable drugs called PCSK9 inhibitors can reduce cholesterol levels. These drugs target and inhibit the PCSK9 protein, which opens up additional liver cell receptors for the removal of low-density lipid cholesterol from circulation.
Conclusion
A genetic flaw in the body's low-density lipid (bad) cholesterol-recycling process is known as familial hypercholesterolemia. Low-density lipid levels continue to be quite high in the blood as a result; in extreme situations, levels can exceed 190 mg/dL of blood. In essence, elevated low-density lipid cholesterol is a characteristic of familial hypercholesterolemia patients from birth. With age, everyone's cholesterol levels tend to increase. However, low-density lipid levels in people with familial hypercholesterolemia start out high and gradually increase. This causes atherosclerotic plaques, similar to non-inherited cholesterol problems, which raise the risk of coronary heart disease above average. People with familial hypercholesterolemia have a 20-fold increased chance of getting heart disease if they are untreated. Early diagnosis and prompt treatment will help in this condition. To know details about this condition, consult the doctor online.
